PYGM

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease V

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• glycogen storage disease V

  0.85

• Tip-toe gait

  0.50

• hereditary disease

  0.47

• disorder of glycogen metabolism

  0.41

• Acute rhabdomyolysis

  0.41

• macular dystrophy, retinal

  0.37

• hereditary skeletal muscle disorder

  0.34

• rhabdomyolysis

  0.27

• Abnormality of metabolism/homeostasis

  0.27

• neurodegenerative disease

  0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)